Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Retinitis pigmentosa
Always present (100%)HP:0000510
Abnormal ERG
Very frequent (80-99%)HP:0000512
Abnormality of retina blood vessels
Very frequent (80-99%)HP:0008046
Fundus with peripheral bony spicules
Very frequent (80-99%)HP:0007737
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Impaired vision
Very frequent (80-99%)HP:0000505
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Legal blindness
Very frequent (80-99%)HP:0000618
Optic atrophy
Very frequent (80-99%)HP:0000648
Photophobia
Very frequent (80-99%)HP:0000613
Progressive night blindness
Very frequent (80-99%)HP:0007675
Retinal degeneration
Very frequent (80-99%)HP:0000546
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Abnormal central response of multifocal electroretinogram
Frequent (30-79%)HP:0030488
Abnormal full-field electroretinogram
Frequent (30-79%)HP:0030466
Attenuation of retinal blood vessels
Frequent (30-79%)HP:0007843
Cystoid macular edema
Frequent (30-79%)HP:0011505
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Glaucoma
Frequent (30-79%)HP:0000501
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Kalnienk vision
Frequent (30-79%)HP:0007994
Keratoconus
Frequent (30-79%)HP:0000563
Night blindness
Frequent (30-79%)HP:0000662
Optic disc pallor
Frequent (30-79%)HP:0000543
Optic nerve head drusen
Frequent (30-79%)HP:0012426
Photoreceptor outer segment loss on macular OCT
Frequent (30-79%)HP:0030610
Posterior subcapsular cataracts
Frequent (30-79%)HP:0007787
Retinal atrophy
Frequent (30-79%)HP:0001105
Color vision defects
Occasional (5-29%)HP:0000551
Related Conditions
Autosomal dominant retinitis pigmentosa(child)
Autosomal recessive retinitis pigmentosa(child)
X-linked retinitis pigmentosa(child)
Tapetoretinal dystrophy(child)
Phytanic acid storage disease(child)
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome(child)
FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome(child)
Retinitis pigmentosa due to systemic disease(child)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa(child)
Retinitis pigmentosa of left eye(child)
Retinitis pigmentosa of right eye(child)
Hereditary retinal dystrophy(parent)
Quick Facts
- SNOMED CT
- 28835009
- UMLS CUI
- C0035334
- Fully Specified Name
- Retinitis pigmentosa (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.